G6PC3 (glucose-6-phosphatase catalytic subunit 3)

Gene

• Entrez ID: 92579
• Gene name: Glucose-6-phosphatase catalytic subunit 3
• Gene symbol: G6PC3
• Synonyms (NCBI Gene): SCN4, UGRP
• Chromosome: 17
• Chromosome location: 17q21.31
• Summary: This gene encodes the catalytic subunit of glucose-6-phosphatase (G6Pase). G6Pase is located in the endoplasmic reticulum (ER) and catalyzes the hydrolysis of glucose-6-phosphate to glucose and phosphate in the last step of the gluconeogenic and glycogeno

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs34019455	->C	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, 3 prime UTR variant
rs118203968	G>A	Pathogenic	3 prime UTR variant, missense variant, non coding transcript variant, coding sequence variant
rs118203969	T>C	Pathogenic	Coding sequence variant, synonymous variant, non coding transcript variant, missense variant
rs118203970	C>G,T	Pathogenic	5 prime UTR variant, intron variant, upstream transcript variant, stop gained, coding sequence variant, synonymous variant, genic upstream transcript variant, non coding transcript variant
rs118203971	G>C	Pathogenic	3 prime UTR variant, missense variant, non coding transcript variant, coding sequence variant
rs148559256	C>T	Pathogenic	3 prime UTR variant, non coding transcript variant, stop gained, coding sequence variant
rs200478425	G>A,C	Pathogenic, uncertain-significance	Non coding transcript variant, missense variant, coding sequence variant, 3 prime UTR variant
rs267606834	A>G	Pathogenic	Non coding transcript variant, initiator codon variant, coding sequence variant, missense variant
rs745582203	C>G,T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant, stop gained
rs750695182	T>G	Likely-pathogenic	Coding sequence variant, missense variant, 3 prime UTR variant, non coding transcript variant
rs769441127	C>-	Pathogenic	5 prime UTR variant, frameshift variant, non coding transcript variant, intron variant, coding sequence variant
rs775224457	C>T	Pathogenic	5 prime UTR variant, non coding transcript variant, missense variant, coding sequence variant, intron variant, upstream transcript variant, genic upstream transcript variant
rs797044567	->T	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 3 prime UTR variant
rs1191239079	->C	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, 5 prime UTR variant, intron variant
rs1194477276	C>G,T	Likely-pathogenic	Stop gained, non coding transcript variant, synonymous variant, coding sequence variant, 5 prime UTR variant, genic upstream transcript variant, intron variant, upstream transcript variant
rs1597905369	CTCAACCTCATCTTCAAGTGG>-	Pathogenic	5 prime UTR variant, coding sequence variant, splice donor variant, non coding transcript variant, intron variant, genic upstream transcript variant, upstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT003103	hsa-miR-122-5p	Luciferase reporter assay, qRT-PCR	19296470
MIRT022062	hsa-miR-128-3p	Microarray	17612493
MIRT003103	hsa-miR-122-5p	Microarray	17612493
MIRT039531	hsa-miR-652-3p	CLASH	23622248
MIRT1009012	hsa-miR-185	CLIP-seq
MIRT1009013	hsa-miR-3126-3p	CLIP-seq
MIRT1009014	hsa-miR-3179	CLIP-seq
MIRT1009015	hsa-miR-3192	CLIP-seq
MIRT1009016	hsa-miR-3202	CLIP-seq
MIRT1009017	hsa-miR-323-5p	CLIP-seq
MIRT1009018	hsa-miR-3652	CLIP-seq
MIRT1009019	hsa-miR-3659	CLIP-seq
MIRT1009020	hsa-miR-4283	CLIP-seq
MIRT1009021	hsa-miR-4306	CLIP-seq
MIRT1009022	hsa-miR-4314	CLIP-seq
MIRT1009023	hsa-miR-4430	CLIP-seq
MIRT1009024	hsa-miR-4489	CLIP-seq
MIRT1009025	hsa-miR-4493	CLIP-seq
MIRT1009026	hsa-miR-4533	CLIP-seq
MIRT1009027	hsa-miR-4644	CLIP-seq
MIRT1009028	hsa-miR-4646-5p	CLIP-seq
MIRT1009029	hsa-miR-4797-5p	CLIP-seq
MIRT1009030	hsa-miR-574-5p	CLIP-seq
MIRT1009031	hsa-miR-759	CLIP-seq
MIRT1009032	hsa-miR-876-3p	CLIP-seq
MIRT1998968	hsa-miR-122	CLIP-seq
MIRT1009017	hsa-miR-323-5p	CLIP-seq
MIRT1998969	hsa-miR-3690	CLIP-seq
MIRT1998970	hsa-miR-4254	CLIP-seq
MIRT1998971	hsa-miR-4260	CLIP-seq
MIRT1009020	hsa-miR-4283	CLIP-seq
MIRT1009024	hsa-miR-4489	CLIP-seq
MIRT1009029	hsa-miR-4797-5p	CLIP-seq
MIRT1009030	hsa-miR-574-5p	CLIP-seq
MIRT1009032	hsa-miR-876-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004346	Function	Glucose-6-phosphatase activity	EXP	14718531
GO:0004346	Function	Glucose-6-phosphatase activity	IBA
GO:0004346	Function	Glucose-6-phosphatase activity	IEA
GO:0004346	Function	Glucose-6-phosphatase activity	IMP	25492228
GO:0004346	Function	Glucose-6-phosphatase activity	TAS
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006094	Process	Gluconeogenesis	IBA
GO:0006094	Process	Gluconeogenesis	IEA
GO:0006094	Process	Gluconeogenesis	TAS
GO:0015760	Process	Glucose-6-phosphate transport	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0051156	Process	Glucose 6-phosphate metabolic process	IBA
GO:0051156	Process	Glucose 6-phosphate metabolic process	IEA

Other IDs

• MIM: 611045
• HGNC: 24861
• e!Ensembl: ENSG00000141349

Protein

• UniProt ID: Q9BUM1
• Protein name: Glucose-6-phosphatase 3 (G-6-Pase 3) (G6Pase 3) (EC 3.1.3.9) (Glucose-6-phosphatase beta) (G6Pase-beta) (Ubiquitous glucose-6-phosphatase catalytic subunit-related protein)
• Protein function: Hydrolyzes glucose-6-phosphate to glucose in the endoplasmic reticulum. May form with the glucose-6-phosphate transporter (SLC37A4/G6PT) a ubiquitously expressed complex responsible for glucose production through glycogenolysis and gluconeogenes
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01569	PAP2	37 → 195	PAP2 superfamily	Family

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitously expressed. Highly expressed in skeletal muscle, at intermediate levels in heart, brain, placenta, kidney, colon, thymus, spleen and pancreas. Also detected in testis, prostate, ovary, liver, lung, small intestine and perip
• Sequence:

  MESTLGAGIVIAEALQNQLAWLENVWLWITFLGDPKILFLFYFPAAYYASRRVGIAVLWI
  SLITEWLNLIFKWFLFGDRPFWWVHESGYYSQAPAQVHQFPSSCETGPGSPSGHCMITGA
  ALWPIMTALSSQVATRARSRWVRVMPSLAYCTFLLAVGLSRIFILAHFPHQVLAGLITGA
  VLGWLMTPRVPMERELSFYGLTALALMLGTSLIYWTLFTLGLDLSWSISLAFKWCERPEW
  IHVDSRPFASLSRDSGAALGLGIALHSPCYAQVRRAQLGNGQKIACLVLAMGLLGPLDWL
  GHPPQISLFYIFNFLKYTLWPCLVLALVPWAVHMFSAQEAPPIHSS

• Sequence length: 346

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	Pathogenic; Likely pathogenic	rs778208850, rs2144147052, rs748931188, rs769634275, rs772298089, rs118203968, rs118203969, rs118203970, rs118203971, rs267606834, rs1194477276, rs1056739194, rs775224457, rs769441127, rs148559256, rs797044567, rs2509371931, rs2509364523, rs1177939839, rs2509369208, rs762019955, rs2509364261, rs2509357401, rs747508165, rs1201721504, rs1567967721, rs2509364519, rs767856364, rs2050032479, rs1035282627, rs2509369429, rs2509357939, rs2509357398, rs763408993, rs2509371353, rs200478425, rs745582203, rs1191239079, rs1597905369, rs34019455, rs1295168770, rs777475388	RCV001377785 RCV001824234 RCV001885383 RCV002021924 RCV001931536 RCV000001092 RCV000001093 RCV000001094 RCV000001095 RCV001815156 RCV002283953 RCV003064457 RCV000192087 RCV000192088 RCV000192089 RCV000192090 RCV002885411 RCV003496187 RCV003495515 RCV003495021 RCV003494753 RCV003495987 RCV003495663 RCV003496676 RCV003496710 RCV003600492 RCV003600539 RCV003602199 RCV003602104 RCV003602221 RCV003602218 RCV003602488 RCV003599911 RCV003856756 RCV003991691 RCV000023859 RCV000779221 RCV000808701 RCV001385765 RCV001815446 RCV003325986 RCV001203763 RCV001301378	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Inherited Immunodeficiency Diseases	Pathogenic	rs34019455	RCV001027572	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DURSUN SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
G6PC3-related disorder	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL RECESSIVE 4	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe congenital neutropenia	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SEVERE CONGENITAL NEUTROPENIA DUE TO G6PC3 DEFICIENCY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Albinism Oculocutaneous	Oculocutaneous albinism	Pubtator	21677667	Associate	★☆☆☆☆ Found in Text Mining only
Albinism, Oculocutaneous	Oculocutaneous albinism	BEFREE	21677667		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	34305938	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	Congenital Neutropenia	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Brain Neoplasms	Brain neoplasms	Pubtator	38034009	Associate	★☆☆☆☆ Found in Text Mining only
Bronchiectasis	Bronchiectasis	BEFREE	26479985		★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of fingers	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	24322501		★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	25491320	Associate	★☆☆☆☆ Found in Text Mining only
Congenital anomaly of face	Facial dysmorphism	BEFREE	22050868		★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	20717171, 23441086, 23758768, 26479985		★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of thymus	Congenital Hypoplasia Of Thymus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital neutropenia	Congenital Neutropenia	BEFREE	19118303, 19775295, 20498302, 20616219, 20717171, 20799326, 21206270, 21285905, 21385794, 21891829, 22050868, 23018568, 23171239, 23180359, 23298686, 23441086, 23758768, 24105461, 24322501, 24750412, 24796372, 25284454, 25391451, 25491320, 26479985, 26808373, 31157858		★☆☆☆☆ Found in Text Mining only
Congenital neutropenia	Congenital Neutropenia	GENOMICS_ENGLAND_DG	19118303, 20616219, 20717171		★☆☆☆☆ Found in Text Mining only
Congenital pectus carinatum	Congenital Pectus Carinatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cor Triatriatum	Cor Triatriatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Craniosynostoses	Craniosynostosis	Pubtator	20220065	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	23171239, 25491320, 31157858	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	31157858		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	Pubtator	34305938	Associate	★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cyclic neutropenia	Cyclic Neutropenia	BEFREE	24105461		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	24796372		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	35926094	Associate	★☆☆☆☆ Found in Text Mining only
Diarrhea	Diarrhea	Pubtator	25491320	Associate	★☆☆☆☆ Found in Text Mining only
Dursun Syndrome	Dursun Syndrome	BEFREE	20799326		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dursun Syndrome	Dursun Syndrome	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dursun Syndrome	Dursun Syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dysmorphism	Dysmorphism	BEFREE	24796372		★☆☆☆☆ Found in Text Mining only
Erythroid hypoplasia	Erythroid hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Foramen Ovale, Patent	Patent foramen ovale	BEFREE	20717171		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	38034009	Associate	★☆☆☆☆ Found in Text Mining only
Glucose-6-phosphate transport defect	Glucose-6-Phosphate Transport Defect	BEFREE	20975743, 31691304		★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease	Glycogen Storage Disease	BEFREE	25288127		★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type I	Glycogen Storage Disease	BEFREE	20975743		★☆☆☆☆ Found in Text Mining only
Glycogen storage disease type Ia	Glycogen Storage Disease	BEFREE	25288127		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	25491320	Associate	★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	30040071	Associate	★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	BEFREE	22050868		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	23018568		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	26479985		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	23180359, 24322501, 31157858		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	31157858, 34305938	Associate	★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	33669862	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	23171239		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	25491320	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	25491320	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	22050868, 25284454		★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	20498302, 20616219, 20975743, 21285905, 21677667, 21891829, 23196894, 23758768, 24796372, 25492228, 26479985, 27571123, 30626647, 31691304		★☆☆☆☆ Found in Text Mining only
Lymphohistiocytosis Hemophagocytic	Hemophagocytic lymphohistiocytosis	Pubtator	34537050	Associate	★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	BEFREE	23180359, 26479985		★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	25391451		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	33259599	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Monocytosis	Monocytosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	22050868, 25284454		★☆☆☆☆ Found in Text Mining only
Myelokathexis	Myelokathexis	BEFREE	20616219, 23018568		★☆☆☆☆ Found in Text Mining only
Myeloproliferative Syndrome Transient	Transient myeloproliferative disorder	Pubtator	20220065	Associate	★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural tube defect	Pubtator	25491320	Associate	★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	LHGDN	19118303		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	Pubtator	20220065, 21677667, 21891829, 23454784, 25391451, 25491320, 33259599, 35525891, 36485107, 36546889, 40358701	Associate	★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	BEFREE	20498302, 20616219, 20975743, 21285905, 21677667, 21891829, 23196894, 23758768, 24796372, 25492228, 26479985, 27571123, 30626647, 31691304		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neutropenia Severe Congenital Autosomal Recessive 3	Severe congenital neutropenia	Pubtator	19118303, 19398129, 19775295, 20220065, 20717171, 21385794, 21891829, 23171239, 23454784, 25391451, 25491320, 30040071, 31157858, 33259599, 34305938, 35525891, 36485107, 36546889	Associate	★☆☆☆☆ Found in Text Mining only
Neutropenia Severe Congenital Autosomal Recessive 4	Severe congenital neutropenia	Pubtator	34305938	Associate	★☆☆☆☆ Found in Text Mining only
Neutropenia, Severe Congenital, Autosomal Recessive 4	Neutropenia	UNIPROT_DG	19118303, 20220065, 20616219, 20799326, 22050868, 22469094, 23018568, 23298686, 24105461, 24750412, 25492228		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neutropenia, Severe Congenital, Autosomal Recessive 4	Neutropenia	CLINVAR_DG	19118303, 19775295, 20717171, 22050868, 22469094, 23758768, 25391451, 27577878		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neutropenia, Severe Congenital, Autosomal Recessive 4	Neutropenia	GENOMICS_ENGLAND_DG	19118303, 20616219, 20717171, 27604308		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neutropenia, Severe Congenital, Autosomal Recessive 4	Neutropenia	ORPHANET_DG	19118303, 20799326, 23018568		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neutropenia, Severe Congenital, Autosomal Recessive 4	Neutropenia	BEFREE	23171239		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neutropenia, Severe Congenital, Autosomal Recessive 4	Neutropenia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oculocutaneous Albinism Type IV	Oculocutaneous albinism	Pubtator	23171239	Associate	★☆☆☆☆ Found in Text Mining only
Ostium secundum atrial septal defect	Secundum atrial septal defect	BEFREE	20717171		★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	BEFREE	24750412		★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	BEFREE	20717171		★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Stenosis	Pulmonary Stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Scapuloperoneal myopathy	Scapuloperoneal myopathy	Pubtator	25491320	Associate	★☆☆☆☆ Found in Text Mining only
Sepsis	Sepsis	Pubtator	25491320	Associate	★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	25284454		★☆☆☆☆ Found in Text Mining only
Testicular hypogonadism	Testicular Hypogonadism	BEFREE	24796372		★☆☆☆☆ Found in Text Mining only
Thrombocytopenia	Thrombocytopenia	Pubtator	33259599	Associate	★☆☆☆☆ Found in Text Mining only
Urogenital Abnormalities	Urogenital abnormalities	Pubtator	19118303, 21891829	Associate	★☆☆☆☆ Found in Text Mining only
Urogenital Abnormalities	Urogenital Abnormalities	BEFREE	23018568, 26479985		★☆☆☆☆ Found in Text Mining only
Varicosity	Vulval varices	HPO_DG			★☆☆☆☆ Found in Text Mining only
WHIM syndrome	Whim syndrome	Pubtator	35525891	Associate	★☆☆☆☆ Found in Text Mining only
Wiskott-Aldrich Syndrome	Wiskott-Aldrich Syndrome	BEFREE	21206270		★☆☆☆☆ Found in Text Mining only